CDKL5 Proband Entry
Entry ID: cp473
Systematic name: c.380A>G
Protein name: p.His127Arg
Alternate name(s): p.H127R
Mutation type: missense
Domain: serine-threonine kinase site
Pathogenicity class: likely pathogenic variant
Gender: Female
Phenotype: Not known
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: direct, Exons 2-21
Source of DNA: blood
Familial testing: not found in father or mother
Familial X-inactivation:
Control screening: No
dbSNP ID: rs267608468
Source: Directly submitted
Comments:
Entry last updated on: 2018-06-05 13:45:42
Similar entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.380A>G | p.His127Arg | Rett syndrome - not specified | Female | 19241098 Russo et al (2009) | cp111 |
c.380A>G | p.His127Arg | Not Rett syndrome - early onset seizures | Female | Directly submitted | cp483 |
Displaying a total number of 2 proband entries.